Disease

46,XY sex reversal 3

Definition
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.
Synonyms
  • 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure
  • 46,XY sex reversal, partial or complete, NR5A1-related
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